List of variants reported as uncertain significance for Kabuki syndrome 1 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser)	rs201507971	0.00284
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val)	rs199593058	0.00011
NM_003482.4(KMT2D):c.11849A>G (p.Gln3950Arg)	rs751367935	0.00008
NM_003482.4(KMT2D):c.7001G>A (p.Arg2334Gln)	rs757300574	0.00005
NM_003482.4(KMT2D):c.5285G>C (p.Ser1762Thr)	rs777604931	0.00003
NM_003482.4(KMT2D):c.6440C>T (p.Ala2147Val)	rs764604229	0.00003
NM_003482.4(KMT2D):c.1408C>T (p.Pro470Ser)	rs761594079	0.00001
NM_003482.4(KMT2D):c.5423G>A (p.Gly1808Glu)	rs765343914	0.00001
NM_003482.4(KMT2D):c.6902C>T (p.Pro2301Leu)	rs1565794840	0.00001
NM_003482.4(KMT2D):c.7328G>T (p.Arg2443Leu)	rs780776865	0.00001
NM_003482.4(KMT2D):c.10640G>A (p.Arg3547His)	rs775632051
NM_003482.4(KMT2D):c.15341A>C (p.His5114Pro)	rs1565759674
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr)	rs143711798
NM_003482.4(KMT2D):c.5267G>A (p.Arg1756Gln)	rs908795312
NM_003482.4(KMT2D):c.6215G>A (p.Arg2072His)	rs748389081

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